Module 9 - Part 2 Flashcards

(44 cards)

1
Q

Transposable Elements

A

fragment of DNA that can be excised and then moved elsewhere

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2
Q

Genetic elements that move are called: (5)

A
  1. controlling elements
  2. jumping genes
  3. mobile genes
  4. mobile genetic elements
  5. transposons
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3
Q

Barbara McClintock (1902-1992)

A
  • discovered TEs in 1940/50s
  • ignored for 20 years because…
    1. it was too different
    2. didn’t fit w the accepted understanding of the genome
    3. other scientists didn’t understand
    4. it was the 1950s and she was a women
  • her work eventually recognized w a Nobel prize in physiology in 1983
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4
Q

2 genetic factors that are required for chromosome breakage (in maize):

A
  1. dissociation factors (DS): always at site of breakage (cis factor)
  2. activator factor (Ac): at an unlinked locus, but was required to activate or cause breakage (trans factor)
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5
Q

Ac factor is considered

A

mobile (& resides in different location in different individual plants)

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6
Q

Abrupt changes associated with the activity of Ac and DS factors were given the name

A

controlling elements

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7
Q

Transposase

A

an enzyme that has a “cut and paste” mechanism that removes the DNA element from one locus and inserts it into another

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8
Q

Mechanism of transposition (3 steps)

A
  1. transpose makes a staggered cut in the host DNA molecule (creates overhang)
  2. transposon inserts between ends of cut
  3. host DNA repair machinery joins host DNA & transposon at each end using overhangs as templates
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9
Q

Ds is _______ in the absence of a func. Ac

A

stable

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10
Q

Ac is….

A

unstable

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11
Q

Ds is a _________ variant of Ac

A

deletion

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12
Q

Ac

A

autonomous element (encodes all info necessary for movement)
- transposase & IR = inverted repeats

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13
Q

Ds

A

non-autonomous element (requires a related autonomous element to move)
- no transposase

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14
Q

Class 1: retrotransposons

A
  • related to retrovirus
  • use an RNA intermediate
  • they encode a reverse transcriptase that makes a DNA copy of the RNA that can be encoded into the genome
  • found in eukaryotes only
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15
Q

Class 2: DNA transposons

A
  • DNA element that moves directly from one position in genome to another (cut & paste)
    or may be copied & moved as a DNA molecule
  • found in both eukaryotes and prokaryotes
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16
Q

Common characteristics of TEs

A
  • have direct repeats - short repeated seq flanking the element (arise by transposition)
  • carry a gene coding for an enzyme that catalyzes transposition
    1. transposase: elements use DNA intermediate
    2. reverse transcriptase: elements use RNA intermediate
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17
Q

Retrovirus

A

single-stranded virus, uses a double stranded DNA intermediate for replication

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18
Q

Retroviral genes

A

gag, pol, env
genes encoding proteins required for transposition

19
Q

Gag

A

maturation of viral RNA genome

20
Q

Pol

A

reverse transcriptase + integrase

21
Q

Env

A

structural protein surrounding virus

22
Q

LTR

A

long terminal repeat; recognition site for transposition

23
Q

How do TEs cause mutations

A
  • insert themselves in coding regions & disrupt protein func
  • when DNA transposons move = cause a deletion or DSB
24
Q

TEs can ______ gene expression by influencing….

A

increase, neighbouring promotor or replacing nascent promotor

25
______ can bind to TEs and can _______
insulators, block enhancer-promotor communication - repress gene expression
26
TEs can turn gene expression ____ by blocking ________
on, inhibitory sequences (like repressive chromatin)
27
Maize
49-78% of genome is made up of retrotransposons
28
Wheat
90% of genome consists of repeated sequences 68% of TEs
29
Mammel
45-48% genome comprised of transposons or remnants of transposons >45% genome made up of retrotransposons DNA transposons accounts for 2-3%
30
SINEs
Short interspaced nuclear elements - Alu - 300bp
31
LINEs
long interspaced nuclear elements (avg. length 6.5kb retrotransposons
32
Minisatellites
aka VNTRs - regions 10-100bp long, repeated variably
33
Microsatellites
aka STRP - regions 2-5bp repeated 10-30X
34
Alu elements
- found dispersed throughout the human genome - > 11 mil elements in human genome (approx 11% of genome)
35
TEs impact on human genome
- increase metabolic burned on the cell (replication) - leave a copy behind after transposition, therefore increase in number - increase genome diversity
36
Where do TEs insert
mostly 5' end of gene (regulatory region)
37
Are TEs mobile
most are not, maybe 0.05% can
38
Are TEs transcribed
yes
39
Do TEs impact chromosome structure
yes
40
Diseases caused by TEs (7)
- hemophilia A & B - severe combined immunodeficiency - porphyria - predisposition to cancer - Duchenne muscular dystrophy - BRCA1 - neurofibromatosis (deleterious insertions associated with Alu elements)
41
do SINEs (Alu seq) and LINEs causes mutations responsible for human genetic diseases
yes
42
HERV
human endogenous retrovirus
43
HERV-H
- subfamily most common - expressed preferentially in embryonic SCs - promote genome instability through non-allelic homologous recombination "HERV susceptibility regions"
44
Case study HERV-H finding
deletion near 4 potential HERV-H loci on chromosome 3